The Big Genomics Team




Calling a conference a festival gives it a whole different texture. Maybe celebratory. On a cold January morn, around 2,000 genomics professionals met at The Design Centre in London for The Festival of Genomics. They came from the research lab, from the clinic, from industry and beyond. United in taking stock of something that will be incredible for some of us and perhaps normal for the next generation. Making progress with genomics to improve healthcare. There’s a way to go though. I hope that these conference highlights show that, and I welcome your comments, corrections and suggestions.


The goals for attending The Festival of Genomics were to:


  • Educate myself on the latest challenges and opportunities in the mainstreaming of genomics.
  • Connect with colleagues and companies with a view to understanding their challenges and helping them with solutions through interim commercial/marketing support, roles and projects.


I’m looking forward to building on the relationships, old and new, to earning trust and delivering value to my clients in genomics and the best results that I can.


Sequencing the human genome…


Professor Mark Caulfield, Chief Scientist of Genomics England, highlighted that the human genome project cost $3.2 billion for the first genome to be sequenced. Now a human genome can be sequenced for less than $1000. Incredible progress but a long way to go to release the full medical value out of the 100,000 Genomes Project, completed at the end of 2018, and similar projects being undertaken globally. The seed of success has been phenomenally sown though. We can dare to dream:


  • 50,000 of the 100,000 genomes were sequenced in the second half of 2018.
  • The idea of the inspirational 100,000 Genomes Project was conceived over dinner at the 2012 Olympics in London - the inspiration of an amazing sports spectacle coupled to advancing medical science!


Genomics – major health advances


Through the analysis of genetic variants within genomes, Professor Caulfield shared two examples from rare disease sufferers:


  • The introduction of a higher fat diet reduced seizures in a young boy.
  • An improved understanding of a rare disease as being de-novo and not inherited allowed a healthy baby to be conceived.


Efficacy is the driving reason for drug development failure and genomics data is also being used to improve drug target identification and drug compound development:


  • Economically this will be better for the drug development industry (more drugs will be approved).
  • From a patient perspective the data is used to target the treatment more effectively. In addition, the Open Targets initiative is being used across the drug discovery ecosystem in order to find the best targets for future medicines.


The future challenges to make more progress


Companies, data analytics and laboratory methods are still being established. The interplay and communication of the possibilities and the limitations is beautifully complex and challenging.  Patient, clinic, lab, data sets and analysis, likely implications – roles and teams are evolving fast.

A decade from now we will have health passports on our phones which will allow clinicians to program the best individual treatment for us:


  • This will help to reduce/avoid adverse reactions, which account for 7% of hospital admissions.
  • It will increase the diagnostic yield which is still fairly low at 20-30%.
  • As the sequencing and variant data-sets increase and more is understood, the 70% ‘to do’ will ‘program in’ diagnostics, treatments and prognostics.
  • In addition, as the diagnostic yield increases it will secure earlier and ever-more health improving specific life-style advice, as well as targeted treatment.
  • Less positively, it will also identify areas where there are limited treatment options. Some challenging news but it will identify opportunities for research and development programs to understand more and develop potential solutions.


Team GB


The UK is leading the way here and has committed 5 million genomes to be sequenced by 2024:


  • The disease areas in focus at the moment are cancer, rare and infectious diseases.
  • Professor Sue Hill, Chief Scientific Officer for England, updated on the NHS’s plans to rely more on whole genome sequencing over single gene testing which gives value limited to the test being done.
  • Understanding in depth what this genomic data means for all citizens and patients contrasts single gene testing as more can be discovered over time.
  • Currently 30-50% of medicines are ineffective as prescribed.
  • Clustering the medicines prescribed with an individual’s genomic and other data - including protein expression, radiomics, phenotypic and lifestyle data - will reduce this significantly.
  • Genomics for all is the dream but some citizens may need to pay at first.


The informatics challenge - taking the above information and making a quick and effective conclusion on what to do about it – is huge. As is the need for system learning, for example, throughout the 13 Genomic Medicine Centres in the England. It must “Bring clinical phenotypic data together to make it meaningful for clinicians to make decisions for patients.”


In summary – there are problems to solve, there is value to bring


Genomics, and specifically sequencing for all will undoubtedly impact with improved individual treatment and healthcare outcomes. As genomics is mainstreamed there is much to address, including:


  • Resourcing genomics appropriately.
  • Processing large data sets to understand the implication and action now and in future.
  • Ensuring genomics for all means that, with genomics and precision medicine available to everyone, wherever they live and whatever their background.
  • Building competence in psychiatric and other disease areas.
  • Communicating genomics effectively to the public and individuals – both the opportunities/certainties and the potential pitfalls/lack of certainties.
  • Walking and counselling patients and citizens through their individual genomic results and decisions.
  • Using genomics to streamline drug development pathways… A phenomenal challenge but a magnificent one, full of potential and opportunities to improve healthcare for patients.


One thing for sure our 3 billion base pairs, 20,000 genes, associated biomarkers and phenotypes, have much more to reveal. We as industry, pharma, clinicians, researchers, bioinformaticians, software developers and citizens must stay close to advance the most. The spirit of the festival, the passion of the participants to understand more and improve patient care is incredibly strong!


Thank you to the brilliant organisers, presenters and participants at the The Festival of Genomics – it was truly inspirational.


#Genomics #MultiOmics #LifeSciences #Diagnostics #HealthCare #genomicsfest #Bioinformatics #GeneticCounselling #Communication #DrugDevelopment #GenomicsForAll #100kGenomes #Cancer #RareDiseases #FromDataToInformation #OpenTargets #FoG #ThankYou


Release Life Sciences and Diagnostics Ltd (RLS) helps life science and diagnostic technologies and companies to grow with commercial and marketing servicesinterim management,training and developmentand career development and coaching.

Contact RLS today to discuss your specific requirements.


Author: Simon Walker, Founding Director, RLS. February 2019.